by Sumant Chavda  , Subhranshu Sekhar Kar  and Alyaa Kamal Al Ramah

Received: 05 July 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304202

Progressive pseudo-rheumatoid dysplasia (PPRD) is an uncommon genetic condition inherited in an autosomal recessive mode caused by a mutation in the WNT1-inducible signaling pathway protein 3 (WISP3) located on chromosome 6q21. In this condition, the articular cartilage gradually deteriorates, causing severe discomfort, stiffness, and joint deformities with a relatively high prevalence in Middle Eastern countries. Camptodactyly and platyspondyly are the standard features found in this condition. We present a very y [...]

by José Ramón Alonso-Fernández

Received: 21 March 2023;  Published: 30 October 2023;  doi: 10.21926/obm.genet.2304201

The personal experience of 36 years in charge of the Newborn Screening Laboratory in Galicia and the consequences of the recent advancement of sampling from 3 days to 24 hours of the newborn's life are reviewed. The implication in the results of the assay of reducers in urine with the Mandelin reagent and its alternatives is commented. The implication in the effects of TSH in blood and the possible ways of dealing with the situation. Since 1978, the Newborn Screening Program in Galicia has maintained the urine samp [...]

by Solaf Alaakel  and Youssef. AL-Ammouri

Received: 29 July 2023;  Published: 26 October 2023;  doi: 10.21926/obm.genet.2304200

The experiment was carried out at the laboratories of the National Commission for Biotechnology in Syria during the period 2020-2022 to detect the somaclonal genetic variation occurring in callus cultures at different ages and to compare them with the In vitro growing plants and introduced species of Rose Periwinkle that grew up in the Syrian environment, in addition, exploring the effect of abiotic stresses in causing genetic variations in callus, by the Inter Simple Sequence Repeats technique (ISSR) using 21 prim [...]

by Nadia A. Abdelmegeed Abdelwahed

Received: 24 September 2023;  Published: 24 October 2023;  doi: 10.21926/obm.genet.2304199

In the contemporary landscape, nurturing genomic entrepreneurial attitudes and intentions poses a substantial challenge for healthcare organizations. The present paper examines the factors affecting attitudes towards genomic technology and entrepreneurial intentions among Egyptian healthcare professionals. The study applied a quantitative approach and collected cross-sectional data from 276 health professionals using convenience sampling. Using structural equation modeling (SEM) through SmartPLS 4, the findings sug [...]

by Selin Galatalı  , Damla Ekin Özkaya  , Taner Mercan  and Ergun Kaya

Received: 27 July 2023;  Published: 19 October 2023;  doi: 10.21926/obm.genet.2304198

In the face of rapid population growth worldwide, humanity's need for plant and animal products is increasing. In this regard, the organizations in charge of production make production and consumption forecasts for the future and try to accelerate the work aimed at increasing production. There are various ways of increasing production. The first of these is the improvement of cultivation techniques, the expansion of irrigated agricultural areas, and the effective control of diseases and pests. The second is to find [...]

by Georgianne L. Arnold

Received: 14 June 2023;  Published: 18 October 2023;  doi: 10.21926/obm.genet.2304197

Newborn screening can now detect more than 50 disorders, providing early and often life-saving treatment. Inborn errors of metabolism account for the majority of these disorders. This review will consider the more common metabolic disorders identified on newborn screening, including history, technique and management of these disorders.

by Marie K. Norris  and Shibani Kanungo

Received: 29 June 2023;  Published: 10 October 2023;  doi: 10.21926/obm.genet.2304196

The expansion of newborn screening (NBS) encompasses a wide range of inherited metabolic disorders, including disorders of carbohydrate, lipid, and protein metabolism. Effective treatment of these disorders requires comprehensive nutrition and medical management. This review highlights the intricacies of medical nutrition therapy for several common metabolic disorders and underscores the crucial role of metabolic dietitians in managing these patients.

by Sydney Rudowski  , Cornelius F. Boerkoel  , Miao He  and Shibani Kanungo

Received: 20 April 2023;  Published: 05 October 2023;  doi: 10.21926/obm.genet.2304195

After the completion of the human genome project, there have been many advances in the field of genetics. With next generation sequencing, patients can undergo genomic analysis through whole exome or whole genome testing. These comprehensive tests can shorten the diagnostic odyssey and guide medical management and thereby potentially reduce mortality and morbidity. To date, parents and physicians have reported positive perceptions of using these genomic testing even when a diagnosis is not made. Remaining challenge [...]

by Ashley Lahr  , Nadene Henderson  , Lee Williams  , Georgianne Arnold  and Damara Ortiz

Received: 14 June 2023;  Published: 25 September 2023;  doi: 10.21926/obm.genet.2303194

Lysosomal storage disorders (LSD) are caused by enzymatic failure to degrade specific cellular byproducts of metabolism within the lysosome. They have a wide range of presentations involving multiple body systems and can manifest from infancy through adulthood. As treatments have become available for many of these disorders, newborn screening has been adapted for early identification and pre-symptomatic treatment. This article will review some of the LSD that are now being added to newborn screening panels, includi [...]

by Nirasha Nundkumar  , Sooboo Singh  and Moganavelli Singh

Received: 14 June 2023;  Published: 21 September 2023;  doi: 10.21926/obm.genet.2303193

Layered double hydroxides (LDHs) have interesting properties and structures that enable them to carry nucleic acids, such as deoxyribonucleic acid (DNA). This study synthesized LDHs using the co-precipitation method and functionalized with the amino acids arginine (Arg) and histidine (His) to promote proton-sponge activity for enhanced transgene expression. The LDHs were characterized using X-ray diffraction (XRD), transmission electron microscopy (TEM), and nanoparticle tracking analysis (NTA). The interaction of [...]